ClinVar Miner

List of variants in gene ELN reported as pathogenic by GeneDx

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Gene type:
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Total variants: 18
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NM_000501.4(ELN):c.1040del (p.Pro347fs) rs1563826213
NM_000501.4(ELN):c.1101del (p.Val368fs) rs863223520
NM_000501.4(ELN):c.1150+1G>A rs727503030
NM_000501.4(ELN):c.1161del (p.Gly388fs) rs863223521
NM_000501.4(ELN):c.1195del (p.Val399fs) rs863223522
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.1716dup (p.Val573fs) rs1554683650
NM_000501.4(ELN):c.1928_1952del (p.Gly643fs) rs863223524
NM_000501.4(ELN):c.2058del (p.Gly688fs) rs886039351
NM_000501.4(ELN):c.2T>C (p.Met1Thr) rs863223518
NM_000501.4(ELN):c.450C>A (p.Tyr150Ter) rs137854454
NM_000501.4(ELN):c.477del (p.Phe160fs) rs863223519
NM_000501.4(ELN):c.590del (p.Gly197fs) rs863223526
NM_000501.4(ELN):c.631C>T (p.Pro211Ser) rs1064793880
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000501.4(ELN):c.848dup (p.Gly284fs) rs863223528
NM_000501.4(ELN):c.862dup (p.Ala288fs) rs727503028

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